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2025
Mark Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families
Omran, Meis ; Liu, Yaxuan ; Sun Zhang, Alexander ; Poluha, Anna ; Stenmark-Askmalm, Marie ^LU ; Persson, Fredrik ; Hallbeck, Anna Lotta ; Rosén, Anna ; Helgadottir, Hafdis T. and Tham, Emma , et al. (2025) In European Journal of Human Genetics 33(4). p.513-522
- Contribution to journal › Article
2024
Mark Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson, Josefin ; Lidéus, Sarah ; Frykholm, Carina ; Gunnarsson, Cecilia ; Mihalic, Filip ; Gudmundsson, Sanna ; Ekvall, Sara ; Molin, Anna Maja ; Pham, Mai and Vihinen, Mauno ^LU , et al. (2024) In European Journal of Human Genetics 32(3). p.333-341
- Contribution to journal › Article
2023
Mark Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga and Read, Andrew , et al. (2023) In European Journal of Human Genetics 31(3). p.279-281
- Contribution to journal › Letter
2022
Mark Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Dareng, Eileen O. ; Augustinsson, Annelie ^LU ; Olsson, Håkan ^LU and Pharoah, Paul D. (2022) In European Journal of Human Genetics 30(3). p.349-362
- Contribution to journal › Article
Mark The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga and Read, Andrew , et al. (2022) In European Journal of Human Genetics 30(5). p.493-495
- Contribution to journal › Article
2021
Mark Contributions of de novo variants to systemic lupus erythematosus
Almlöf, Jonas Carlsson ; Nystedt, Sara ; Mechtidou, Aikaterini ; Leonard, Dag ; Eloranta, Maija Leena ; Grosso, Giorgia ; Sjöwall, Christopher ; Bengtsson, Anders A. ^LU ; Jönsen, Andreas ^LU and Gunnarsson, Iva , et al. (2021) In European Journal of Human Genetics 29(1). p.184-193
- Contribution to journal › Article
Mark Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
de Wert, Guido ; Dondorp, Wybo ; Clarke, Angus ; Dequeker, Elisabeth M.C. ; Cordier, Christophe ; Deans, Zandra ; van El, Carla G. ; Fellmann, Florence ; Hastings, Ros and Hentze, Sabine , et al. (2021) In European Journal of Human Genetics 29(3). p.365-377
- Contribution to journal › Article
2020
Mark Communicating genetic information to family members : analysis of consent forms for diagnostic genomic sequencing
Phillips, Amicia ; Niemiec, Emilia ^LU ; Howard, Heidi Carmen ^LU ; Kagkelari, Kalliopi ; Borry, Pascal and Vears, Danya F. (2020) In European Journal of Human Genetics 28(9). p.1160-1167
- Contribution to journal › Article
Mark Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data
Middleton, Anna ; Milne, Richard ; Howard, Heidi ^LU ; Niemiec, Emilia ^LU ; Robarts, Lauren ; Critchley, Christine ; Nicol, Dianne ; Prainsack, Barbara ; Atutornu, Jerome and Vears, Danya F. , et al. (2020) In European Journal of Human Genetics 28(4). p.424-434
- Contribution to journal › Article
Mark De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
Wijnen, Iris G.M. ; Veenstra-Knol, Hermine E. ; Vansenne, Fleur ; Gerkes, Erica H. ; de Koning, Tom ^LU ; Vos, Yvonne J. ; Tijssen, Marina A.J. ; Sival, Deborah ; Darin, Niklas and Vanhoutte, Els K. , et al. (2020) In European Journal of Human Genetics 28(6). p.763-769
- Contribution to journal › Article

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